Canonical Allele Identifier: CA8314973
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 255468
ClinVar RCV Id: RCV000251606
dbSNP Id: rs1259394995
ExAC: 17:4837210 AGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG / A
gnomAD v3: 17-4933915-AGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG-A
gnomAD v4: 17-4933915-AGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG-A
MyVariant Identifiers: chr17:g.4837220_4837258del (hg19) chr17:g.4837211_4837249del (hg19) chr17:g.4933925_4933963del (hg38) chr17:g.4933916_4933954del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933925_4933963del , CM000679.2:g.4933925_4933963del GRCh38
NC_000017.10:g.4837220_4837258del , CM000679.1:g.4837220_4837258del GRCh37
NC_000017.9:g.4777961_4777999del NCBI36
NG_008767.2:g.6631_6669del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1321_1359del (GP1BA) MANE Select ENSP00000329380.5:p.Ser441_Thr453del
ENST00000649830.1:c.-888+388_-888+426del (CHRNE) ENSP00000496907.1:n.-888+388_-888+426del
ENST00000329125.5:c.1321_1359del (GP1BA) ENSP00000329380.5:p.Ser441_Thr453del
ENST00000611961.1:c.1273-30_1281del (GP1BA)
NM_000173.6:c.1321_1359del (GP1BA) NP_000164.5:p.Ser441_Thr453del
NM_000173.7:c.1321_1359del (GP1BA) MANE Select NP_000164.5:p.Ser441_Thr453del
Search 100 bp 5'
Search 100 bp 3'